Anales de la Facultad de Medicina
versión impresa ISSN 1025-5583
VALLE, Rubén; VALENCIA, Víctor y HUAMAN-MUNANTE, José. Neurofibromatosis type 1 associated to peripheral nerve sheath and colon malignant tumor. An. Fac. med. [online]. 2009, vol.70, n.3, pp. 211-216. ISSN 1025-5583.
Neurofibromatosis type 1 is a dominant autosomal disease caused by mutation of the neurofibrin gene located in chromosome 17q11.2. This disease presents a variety of clinical manifestations and predisposition to develop tumors, leading to high mortality. We report the case of a patient with neurofibromatosis type 1 diagnosis who developed a malignant tumor of peripheral nerve sheath and colon cancer. The authors review the literature as well as the clinical factors, imaging and histological features associated to neurofibromas malignant transformation.
Palabras llave : Neurofibromatosis 1; neurofibroma; sarcoma; neoplasms; colon.